Sherpas share genetic variations with Tibetans for high-altitude adaptation.

ABSTRACT:

Background

Sherpas, a highlander population living in Khumbu region of Nepal, are well known for their superior climbing ability in Himalayas. However, the genetic basis of their adaptation to high-altitude environments remains elusive.

Methods

We collected DNA samples of 582 Sherpas from Nepal and Tibetan Autonomous Region of China, and we measured their hemoglobin levels and degrees of blood oxygen saturation. We genotyped 29 EPAS1 SNPs, two EGLN1 SNPs and the TED polymorphism (3.4 kb deletion) in Sherpas. We also performed genetic association analysis among these sequence variants with phenotypic data.

Results

We found similar allele frequencies on the tested 32 variants of these genes in Sherpas and Tibetans. Sherpa individuals carrying the derived a

SUBMITTER: Bhandari S 

PROVIDER: S-EPMC5241213 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature